Article
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.
Journal of medical genetics - 1 Mar 2018
De Boer Martin, Gavrieli Ronit, van Leeuwen Karin, Wolf Haike Reznik, Dushnitzki Maya, Bar-Yosef Yifaat, Bar-Ziv Anat, Behar Doron, Lipitz Shlomo, Miller Tal Elkan, Tool Anton T J, Kuijpers Taco W, van den Berg Timo K, Wolach Baruch, Roos Dirk, Pras Elon
Abstract excerpt
BACKGROUND: Mutations in the NCF1 gene that encodes p47phox, a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. METHODS: We used Sanger sequencing,...
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